Varaico: Literature-Extracted Genetic Variants

PPP1R16B

40 papers

RefSeq Summary

The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded ...

Pfam Domains

Ank_2aa 72–164UCSCAnkyrin repeats (3 copies)

Ankaa 228–260UCSCAnkyrin repeat

Ankaa 261–293UCSCAnkyrin repeat

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 16B

HGNC Alias Symbols

KIAA0823; TIMAP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

2 papers

NM_015568.4

p.V64A

c.191T>C

2 papers

NM_015568.4

p.S331A

c.991T>G

2 papers

NM_015568.4

p.S337A

c.1009T>G

2 papers

NM_015568.4

p.K473Q

c.1417A>C

1 paper

NM_015568.4

p.R24Q

c.71G>A

1 paper

NM_015568.4

p.R29H

c.86G>A

1 paper

NM_015568.4

p.R49*

c.145C>T

1 paper

NM_015568.4

p.K63E

c.187A>G

1 paper

NM_015568.4

p.S65A

c.193T>G

1 paper

NM_015568.4

p.S69S

c.207C>T

1 paper

NM_015568.4

p.V70M

c.208G>A

1 paper

NM_015568.4

p.E74Q

c.220G>C